Diagnosis

A diagnosis of Noonan syndrome is usually made after a doctor observes some key signs, but this can be difficult because some features are subtle and hard to identify. Sometimes, Noonan syndrome isn't diagnosed until adulthood, only after a person has a child who is more obviously affected by the condition. Molecular genetic testing can help confirm a diagnosis.

If there's evidence of heart problems, a doctor who specializes in heart conditions (cardiologist) can assess the type and severity.

Nov. 30, 2016
References
  1. Conboy E, et al. Paraspinal neurofibromas and hypertrophic neuropathy in Noonan syndrome with multiple lentigines. Journal of Medical Genetics. 2016;53:123.
  2. Rojnueangnit K, et al. High incidence of Noonan syndrome features including short stature and pulmonic stenosis in patients carrying NF1 missense mutations affecting p.Arg1809: Genotype-phenotype correlation. Human Mutation. 2015;36:1052.
  3. Rogol AD. Causes of short stature. http://www.uptodate.com/home. Accessed June 26, 2016.
  4. Roberts AE, et al. Noonan syndrome. The Lancet. 2013;381:333.
  5. National Library of Medicine. Noonan syndrome. Genetics Home Reference. https://ghr.nlm.nih.gov/condition/noonan-syndrome. Accessed June 26, 2016.
  6. Romano AA, et al. Noonan syndrome: Clinical features, diagnosis, and management guidelines. Pediatrics. 2010;126:745.
  7. Learning about Noonan syndrome. National Human Genome Research Institute. https://www.genome.gov/25521674/learning-about-noonan-syndrome/. Accessed June 26, 2016.
  8. Noonan syndrome. Genetic and Rare Diseases Information Center. https://rarediseases.info.nih.gov/gard/10955/noonan-syndrome/resources/1. Accessed June 26, 2016.
  9. Noonan syndrome. National Organization for Rare Disorders. http://rarediseases.org/rare-diseases/noonan-syndrome/. Accessed June 26, 2016.
  10. Babovic-Vuksanovic D (expert opinion). Mayo Clinic, Rochester, Minn. June 29, 2016.